Orkin S H, Goff S C, Nathan D G
J Clin Invest. 1981 Mar;67(3):878-84. doi: 10.1172/jci110105.
By restriction endonuclease mapping, gene cloning, and DNA sequencing we have determined the region of DNA that is deleted in a family with gamma delta beta-thalassemia. The deletion removes the linked epsilon, gamma-, and delta-globin structural genes and terminates within the coding portion of the beta-globin gene. Since the extent of DNA deletion in this family differs from that reported in another family, we conclude that gamma delta beta-thalassemia is heterogeneous at the molecular level.
通过限制性内切酶图谱分析、基因克隆和DNA测序,我们确定了一个患有γδβ地中海贫血的家族中缺失的DNA区域。该缺失区域移除了相连的ε、γ和δ珠蛋白结构基因,并在β珠蛋白基因的编码部分内终止。由于这个家族中DNA缺失的范围与另一个家族中报道的不同,我们得出结论,γδβ地中海贫血在分子水平上是异质性的。